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[Glycogen storage syndrome type 0 caused by GYS2 gene variation and phenotypic differences between two siblings].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Nov 2021

Liao Yinting, Tian Yang, Li Xiaojing, Cao Yiru, Hou Chi, Liang Huici, Chen Wenxiong

Abstract excerpt

OBJECTIVE: To provide a basis for genetic counseling and clinical precision therapy by exploring the genetic etiology of a child with recurrent hypoglycemia convulsion accompanied by language retardation. METHODS: Peripheral blood samples were obtained from the proband, his sister and his parents. Whole genomic DNA was extracted and analyzed by the whole exon gene sequencing and confirmed by Sanger sequencing....

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PMID: 34729754
DOI: 10.3760/cma.j.cn511374-20200511-00336

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